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Living with KD

Personal Stories

Terry Waite, - CA, USA

Terry Waite, - CA, USA

I led a fairly normal childhood, and could run, play and hike like any other kid and got into my share of trouble. In fact I was one of the fastest runners in my school. The only thing that I remember at all that may have been a forewarning of what was going to come later in life was that I had trouble running long distances without my legs getting tired. I finished high school and soon after enlisted in the Air Force. It was a struggle in basic training to complete the physical conditioning portion where they made you run. I just thought it was me being out of condition that was causing the problem on the long runs. I had a friend who would schedule me for dorm guard duty during the physical training session's (PT) because he knew I had a problem running long distances. I knew the day would come at the end of Basic Training when we would all be tested running. If I did not pass this I would never complete Basic and would be washed out, I was dreading this day.

The day came when I was to be tested with the rest of the group. The god's must have been with me that day, It poured rain like I had never seen, so instead of running in the rain the required distance, they opted to have us run in place for a sustained 15 minutes. Needless to say I passed.

I was sent to Germany for a few years where I was able to see a lot of the world. I visited many locations in Switzerland, Austria and Luxemburg. I learned to ski in Austria, but I can no longer ski now due to the leg weakness. If I could choose a place to retire someday it would be Switzerland. I returned to the U.S. and remained in the military for 4 years longer before returning to civilian life.

I soon got hooked on Jet Skiing and spent most of my free time at Lake Mead NV.. It was in 1988 when I met my wife.   I could not imagine myself without her in my life. She has stuck with me throughout this ordeal and without her support I don't think I could deal with this disease.

(1991) I was playing in a softball game and everything was going great and I was up to bat. I hit the ball and began to run around second base when I stumbled and fell, Everybody laughed and made jokes about how clumsy I was. I got back on my feet and began to run again, I got about 10 steps further and fell again, This time I was wondering,,, maybe I am a klutz. I stopped playing for the rest of that game. The following week we had another game and the same thing occurred, It was at this time when began to suspect that something was wrong. I decided to quit sports all together.

(1992) I began to notice that my legs were becoming a little weaker and I went to my HMO Physician to explain what had occurred the previous year. He took a look at my legs and told me that my Quadriceps were weak and out of condition and that I should go to the gym and work out. I did just that. I went to the gym and started to work out my legs and after doing about 10 reps of leg presses I tried to stand and found my legs felt like rubber and could barely stand up. I did not go back to the doctor, I figured he would just put it off as me being out of shape and not want to cut into his bonus by referring me out to a specialist. For the next few years I believed that it could possibly be me that was the problem and maybe I was out of shape. I found myself not wanting to go bike riding, hiking or roller blading with friend's because I could not keep up with them. Friend's started to think I was making excuses not to participate because I did not like them. I began to hide my feeling's and not say much of what I was feeling because I did not want to be though of as a baby or complainer.

(May 1996) I knew something was definitely wrong with my legs at this point but I did not know what, all I knew was my legs were getting weaker year by year and I wanted to do as much traveling as I possibly could fearing I would lose my walking ability sometime in the near future. I decided to plan 4 camping trips for this year to Kern River, CA, Big Sur state park, CA, Lake Alpine, CA, Hiking in the Lake Alpine mountains and a visit to Jalama state beach, CA. I also did a Cave Exploration trip where I rappelled down a rope 260 feet into Moaning Cavern, CA, and then crawled another 1/2 mile down into the depth's of the cave. I nearly lost my life in this cave because they hooked up the rappelling gear wrong.

It was on the last trip to Jalama beach when I encountered the scariest symptom yet. It was after a full day of walking as best I could in the sand that I headed for the camp showers. I was in the private shower stall for only a couple of minute's when the unthinkable occurred, I collapsed and fell to the ground like a sack of cement. I was very scared, I could not move my legs for about 6 minutes. I thought I was paralyzed from the waist down but yet I could feel my legs when I touched them. I managed to drag myself across the shower room stall towards the bench. I laid there on the floor and after a few minutes more I began to get some strength back in my legs and was finally able to get enough strength to stand and walk back to camp. The next day we headed back home.

I immediately called my HMO and switched doctors to another that I had been told about. I saw him the next day and he showed genuine concern for my health. Finally someone who believes that I have a real problem. He scheduled me to see a Neurologist and that's where the Diagnostic journey began. (August 1996) After my first evaluation they thought I had a disease called "Glycogen Storage Disease (GSD) type V". This was based on a basic pin prick nerve conduction study and a simple blood test looking for CPK levels, normal levels are up to 9 . My CPK level came back high, about 1900. For a while this is what I was diagnosed with and I began to gather information on this disease and contact others on the internet with this GSD disease. We all wrote back and forth a lot and discussed what we had gone through, that's when things did not seem to match up. Most of the individuals I communicated with that had GSD had extremely high CPK levels of 12,000-16,000 and had an early onset. It was at this time when I decided to go back to my neurologist and discuss this with him.

(October 1996) I discussed the issues above with him and we decided to schedule a quadriceps muscle biopsy to check for the absence of "Myophosphorylase" a side affect of GSD that is absent in deep muscle tissue samples of patients with GSD. The biopsy came back negative, so what could this be???. Next I was sent to the UCLA neuromuscular disorder clinic for and evaluation by their specialists. They ran numerous tests on me and had numerous people look at me, they performed a "Electronic Nerve Conduction Study (EMG) and after examination of the findings, diagnosed me with SMA III Kugelberg-Welander Syndrome. I immediately began to search for more information on this disease on the internet and came across the site "Family's of Spinal Muscular Atrophy", they were very helpful and put me in contact with others with the same type of MD. I called numerous contact's and talked for hours with them. Something was still not right, why did my onset start so late and why was my leg weakness accelerating at a faster rate than I expected if it was supposed to be a very slow progression. I had more questions, so I went back to my doctor and asked if there was anything else that this could be?. He said there was a blood test that they could run to check for a variation of SMA called "Kennedy's disease" but it was a long shot. The test is called "Kennedy's disease DNA test".

(July 1997) Guess what???? the test came back positive. Finally!!! official diagnosis. My doctor told me this an extremely rare condition, about 50 family's worldwide have this.... I lucky :). My odds were better to win the state lottery or being hit by lightning.

Since being diagnosed I have found only 1 other person with Kennedy's disease. His onset was about 5 years ago also and his progression of the disease is about the same as mine with some minor differences. My symptom's are as follows.

Muscle weakness overall goes like this, Upper body weakness 25 % loss, Lower body weakness 60 %, respiratory muscle loss not noticeable, I can still hold my breath for over 3 minutes underwater. I used to practice this when I was younger a lot in my pool. The only respiratory problem I relate to the disease is what I call "Dry Drowning" this occurs 2 or 3 times a month and is terrifying not only for me but for others that are around me when it occurs. My airway gets a muscle spasm and closes on me, this is worse if I had just exhaled. I immediately turn blue and break out into a cold sweat and panic sets in, I have learned to control the panic and try to relax but the problem resides in the people who are around me at the time if they are not familiar with this occurrence. I cannot talk to tell them what is wrong, I have to give myself quick thrust just under the rib cage to force air back out of my lungs to force open the airway. I have never passed out when this occurs which I credit to my breath holding ability and controlling the panic. I have never smoked anything which also helps.

My main challenge is stairs, I cannot take stairs without using my arms to pull myself up them. Carrying anything up the stairs is almost an impossibility. Inclines present a real problem also due to the fact that when I walk all my weight rests on my heels, I cannot put weight on the front ball's of my feet due to the Quad weakness, standing on my tiptoes is impossible. I tend to wobble when I walk due walking on my heels, I cannot get up off the floor without great difficulty. I still take stairs about half the time and will continue until I am too weak, I will not give in to this disease. I also have a considerable amount of pain accompanying the disease although the doctors do not know why, they say this pain does not normally accompany the disease. I take ULTRAM (Tramadol) pain medication daily which helps quite a bit but this also presents a problem, I tend to over do it because the pain medication masks what damage I am doing to my legs since I can't feel the pain then when the medication wears off, OUCH...I just wonder how long until I require the use of a wheelchair. I know life does not end once I enter a chair, What I do know is that a whole new life begins once that occurs and that scares me. My wife does not know how to handle this and neither do I but we are doing our best in dealing with it as it comes.

(Dec 1997) I am now using a wheelchair at work and when I go out to locations that would require a lot of walking that would rob my legs of needed strength for later, this saves my strength for times when I do want to walk. otherwise I am managing quite well.

(Feb 1998) I have begun to feel the effects of the disease on my upper body as well now. I am having more Respiratory problems as time goes on, especially when Allergy season kicks in or when I have a Respiratory virus. My physician thinks that I may have some atrophy in my throat muscles and has scheduled me for a throat scope exam to see if there is something that is triggering the airway passage to close. My arms now also experience more weakness now, when I'm digging in our garden with a hand shovel I can only dig for about 5 minutes then I lose the ability to even hold onto the shovel, my hands just won't work, I cant even close my fingers.

(Nov 1998) We went on vacation to Hawaii this year for 2 weeks, It was a great trip. We spent 5 Days on Maui and 5 Days on Kauai. We went to the top of Haliakala (Dormant Volcano) at over 10,000 feet above sea level to see the sunrise, the temperature was near 80 F when we left sea level and by the time we reached the top it was about 30 degrees F, I thought I was going to freeze even with the jackets and hotel bed blanket we took. After we came down from the volcano we took the infamous "Road to Hana", it took us almost all day to get there because we kept stopping to look at the beautiful waterfalls and lush vegetation. A couple of days later we took a Catamaran to the Island off Maui called Lanai and spent the day snorkeling and exploring the island. A few days later we went to the island of Kauai (The most beautiful I thought) and we took a helicopter tour of the Island while we were there. There were a few places my wife had to go alone because I was not able to go on the hikes but overall I was able to see most everything she did, and what I could not see in person she video taped for me. Health wise I am doing all right I have progressively gotten a little weaker overall but I am still managing. I have found where the source of my pain is coming from in my legs, It is coming from the tendons in the legs. Due to the muscles becoming very thin in my legs, the tendons have had an enormous amount of stress put on them and are being hyper-extended and overworked. I have found though that doing stretching of the legs helps quite a bit in relieving the pain at least for 6 to 8 hours or so. I am attempting to get my (MHO) health carrier to purchase me an electric wheelchair for work since they have a lot of carpet at work and my arms are having a tough time wheeling me on it. As for the rest of my life,,, everything is OK.

(Dec 1998) We are nearing the holidays now, I hope they find everyone well. I myself am feeling OK a little weaker each day but OK. I do get down in my spirits sometimes and get depressed when I think about what is happening to me, but when that begins to happen I think about all the children with the deadly forms of MD and cancers that have it much worse off than I and how at least I had the time when I was younger and stronger to be able to do the things that most of them will never have a chance to. I have nothing to complain about when I think about that. People ask me how the gene therapy they hear about is going and I tell them that it is not being tested for my particular type of MD and they say "why are they not testing for your type?" I tell them that they are starting with the more deadly types and in time (which I have but most don't) I will get my turn. I being the optimist and having great faith know that it is only a matter of time until we come up with a cure, I just wonder if they figure out a way to stop the disease will my muscles be able to rebuild.

(Apr 1999) Let me start off by stating that HMO's stink... It has been an uphill battle with these HMO's for the electric wheelchair. I put together a very detailed package of documentation to go along with the prescription that my primary care doctor wrote for the electric powerchair describing my progression and situation and the request was filed. the package contained photo's of me in my manual wheelchair and photos of me in a loaner electric powerchair showing my work environment and why the electric chair is a necessity. It has become increasingly difficult for me to use my arms to wheel myself around my workplace all day long to perform my job. My job requires me to be very mobile and move around the building frequently. Right now I have been relying on my co-workers to push me from place to place to get my job done. I included in the documentation package clinical notes from UCLA stating that the electric wheelchair was necessary these clinical notes were documented by the TOP Neurologist at UCLA. I just got the denial letter from my HMO review board in the mail stating " Medical equipment for patient convenience is not supplied as a benefit". I could not believe this,,,,, I want to continue to be able to work but it seems like they would rather have me go out on long term disability than continue trying to live as near a normal life as I can. The power chair costs $6,500 which I feel would be a great investment by my health plan in my long term mental health. I think I would get very bored and depressed not being able to work and just sitting around at home. The health care system MUST CHANGE......

(Mar 2000) Wow! I can't believe I let almost a year go by without an update. I finally received my electric wheelchair after quite a fight with the HMO Insurance Company. They would not pay for the electric lift-seat that cost around $700.00. However, after approaching my employer about the fact that there entire computer server room was not set up for someone in a wheelchair to reach the keyboards, and my pointing out that a $700.00 investment on their part for the lift seat would be much less expensive than redoing their server room, they were amiable to paying for the lift-seat providing I remained in their employment for at least one year. Last September, my wife and I finally went on a much needed vacation to Hawaii. We spent ten relaxing days on Maui and Kauai Islands. We snorkeled where ever it looked good from the road, took a Catamaran to the less populated Lanaii Island for snorkeling (my wife hiked and videotaped the places I couldn't get to), took a Helicopter tour over Kauai and the Napali Coast, and just enjoyed the beaches. I am about the same as I was about a year ago, just a little bit more progressed in my upper body. Its difficult for me to even hold up a drill now. When I get a cold or virus, it seems to really attack my respiratory system. Its not as easy to recover from colds and breathing becomes a real challenge. I still want to do things around the house and tend to over do it. I wind up suffering from it afterwards, but I feel it is better stay active as much as possible. We have planned a trip to go to Germany, Austria and Switzerland later this year. We are going to go to the Year 2000 World Fair in Hannover, Germany, then take the Romantic Road through Rotenburg, then on to Munich, Salzburg, Innsbruck, and then many towns in Switzerland. Its a little bit scary not knowing what to expect as a traveler in a wheelchair in Europe. But I will update this page when we get back to let you know what areas were easily accessible and those that were not. We really want to make this trip happen while am still able to walk for short distances and we will be taking my collapsible manual wheelchair since the electric chair requires a special lift on vehicles for transporting it and it may be difficult to get it around in Europe. I'm not sure if they have wheelchair ramps on their streets and buildings. We are going to see Neuschwanstein and Linderhof Castles, but I know from past experience that there are way too many stairs for me, so my wife will have to do some of the tours alone. I will try to update this page more often. Check back real soon...

(Nov 2000)  Well, a lot has happened in the past 8 months. The trip to Europe went very well. We hope to scan some of the pictures in very soon and they will be posted on Susanne's on-line photo album.  As for my health; the disease has progressed more rapidly than expected over the years and now affects my upper body strength more than it had prior.  Breathing seems to be much more shallow and even trying to blow up a small balloon now in nearly impossible.  I am not sure why the progression of the disease has been accelerated with me, I will have to try to find that out from the doctors.  Things are going to change quite a bit next week because I am finally giving in and going to go off work on long term disability.  It has become more and more difficult over the past 8 months to make it through the day at work.  Pain and general weakness had become harder and harder to deal with and I found myself wishing I was at home able to lay down and rest only after a short time. I tried to hide this from my boss & co-workers for the longest time and most of the time I pulled it off in fear of not being advanced or promoted because they think I might not be able to do the job.  That now has become the case and I finally decided that my quality of life is more important than climbing any corporate ladder.  I will now have more time when I feel up it on occasion to assist my wife Susanne who has put in countless hours and a tremendous effort in getting the ball rolling with the non-profit organization. She has done an outstanding job with the organization. Soon she will need help to keep things going and we will probably need to find some volunteers in the near future to assist with some of the daily tasks of the organization.  As for myself I will be taking it one day at a time. It will be good for me to be home and rest when ever I need to. Check back soon for updates after Christmas.

(Jan 2001)  I am now at home full time.  It is very hard for me to adjust to not working.  I really miss working and the interaction between myself and co-workers.  I thought that being at home would be the easy life but I am having a bit of a hard time adjusting to this new life.  It seemed in the past that I was always working for the weekend and looking forward for it to come.  Now all the days seem to blend together and sometimes I find myself not knowing what day it is.  My doctor had warned me about the change that I would experience but I did not realize how right he was.  A person can loose their sense of self worth and slip into deep depression if they are not careful.  I have to find some kind of social activity to keep me busy.  I used to make figure models as a hobby (see links below) but I no longer know if that is still possible due to my fingers getting numb and hands shaking.

(July 2001)   Since being on disability I have been able to get the much needed rest that I neglected for so long.  I now wake up at around 6AM because my muscles hurt and I toss and turn the last 4 hours before I get up.  I then lay back down most days at around 8AM for a couple hours and take a nap.  I then am up until about 1PM at which I again have to lay back down due to tiredness. I am usually in bed by 7-8PM most nights feeling exhausted again.   I hate having to prove to the State disability and insurance companies that this disease makes you feel so weak and hurt.  You think they would get the point after me being seen every month or so and doing a little research on their own that this disease is progressive and at present has no cure or treatment.  Why to I have to keep going back to doctors for verification.  They make it so hard.  The e-mails from the people who's lives we have made better with the Kennedy's Disease Association keep me going and give me purpose in my life.

(Feb 2002)   Its been a while since my last update.  The main advancement in the disease that I can note is the breathing problems.  My lungs and breathing seems to get very strained by the end of the day.  I find it hard to take full breath's and have no energy at the end of the day.  My voice seems to get more weak as time goes on.  Cold hands and feet are a real problem but it can be fought by wearing sheepskin boots.  When walking balance seems to be a real issue these days. It seems like the slightest thing can set me off balance.  I am not stating these things to try to scare anyone that may have this disease, I am just trying to give a realistic insight as to my progression over time.  I was able to still bowl up until about a year ago but now can no longer do that.  It seems that I need to find other activities that I am still capable of doing now.  Some times it is very hard to fight of the depression that seems to hit me associated to the disease and what toll it has taken on me and my life,  I find that you need to get yourself out of the house and try to keep busy with things even though it seems hard sometimes and I don't really have the energy.  

(April 2002) I have found a medication that helps me sleep at night and counter acts the effects of the Ultram drug keeping me awake when I take it.  Its called Clonazepam (Klonopin) I take from .5 - 1 mg just before bedtime.  This drug is mainly used to treat seizures and anxiety but it works for me to counter the wired up effects that I get when taking pain medication.  It seems to be working good so far.  I have recently started getting involved in photography in my spare time to keep me active.  Take a look at the link below to see some of the shots I have taken.  There are some interesting shots in the sand sculpture section that I have hand color tinted.  PLEASE VISIT MY PHOTOGRAPHY PAGE - CLICK HERE leave comments on my pictures if you wish. I have many new pictures but they are not shown here.  These are just some beginner shots.  I will be posting a link to some of my better shots at the bottom of this page.

(April 2003) It has been a year since my last log update.  Over the past year I have not noticed much of a difference in muscle strength but have noticed quite a decrease in my balance ability when walking. It seems like when walking that if I bump my foot into any small object on the ground when I walk it can send me falling to the ground.  I now walk very slow & carefully when I walk.  I had a hernia operation this month and am now in the recovery mode. I am recovering very fast which I thought would be the opposite.  When I went in for the operation we discussed with the Anesthesiologist & Surgeon that I had KD and they opted to go with just a local instead of general anesthesia do to the my weaker respiratory system and that worked out just fine. Coming out of the surgery was much faster.  This past year we held the 1st KDA conference in Baltimore MD, USA and it was a big success. Many KD individuals and their spouses attended and from the feedback from many of them it seemed to be a very good experience and they are looking forward to the next meeting in 2003. I am glad to be able to help others with KD.  Me and Susanne also went on a 10 day Caribbean cruise in Jan of 2003 and it was great. I was able to get around the ship with no problems in my wheelchair and the staff was very helpful. The ports were all accessible and we saw many islands and sites. We both have really gotten into photography and really enjoy it.  In the past year we have talked much about about moving to a new area away from the big city and to a more beautiful location with a more laid back life with less stress where we can have time to enjoy life. A couple of areas of interest are the Redding/Shasta area of California or the Oakhurst (gateway to Yosemite park) of California. We will see if this comes to be. Much has happened in the world in the past couple of years and I feel that many people like ourselves are re-evaluating what is really important in life. Life is to short and you have to live it the best you can each day.

(Aug 2003) Well, we made the move.  We chose to move to the Yosemite California area. It was a very tough move and I personally never want to move again. The move was very hard on me and I am still trying to let my muscles recover from it but it is going to be a long road because there is so much to do on the property and things to constantly fix and I need some help but do not have anyone other than my wife to help but she has to work. I may look into see if the community has some volunteer assistance to help me with some small projects around the house.  The past 2 months that we have been here I have had some bad luck medically. In July I had to be rushed to emergency in the middle of the night in extreme pain and I passed 3 kidney stones. Then in the beginning of August I was trying to repair a sprinkler and my balance is bad and I slipped on our gravel driveway and fell over backwards as my leg buckled underneath me it got all cut up and I later went to the doctors because of pain in my side and found I had cracked a rib. Then just last week I was trying to fix something on my wife's car under the seat and was using a Mag-lite flashlight and my hand slipped because I could not hold the flashlight tight and it hit me in the side of the face right near the eye socket and gave me a small black eye.  Other than that I think this was a good move. I am hoping to meet some new friends and live my life the best that I can.

(Sept 2006) It has been 3 years since my last update.  I still have kidney stones in my kidneys and have passed 1 of them just a month ago.  As for the disease progression, my balance is really bad now. If I try to bend over in the slightest way to pick something up I better have something to hold onto to keep me from falling over.  My hands have become weaker and I find it hard to do many things, writing is one of them. I can write about 8 words before my writing goes to a very sloppy childlike look.  Cold weather makes using my hands even worse, sometimes I can't even write one word or turn the key in the ignition of a car or twist the gas cap off.  When its warm I can do more and there is less muscle pain.  I have been lucky with my speech as it has not gone to a totally nasal sound like many KD individuals get. My speech does slur more as I get tired.  Picking up and holding the weight of a cat with both arms I can only do for about 4 minutes maximum without having to put it down.  As for getting up off the ground, I can still do that myself with the aid of something that is at knee height next to me to help mr get up and even that is a challenge. If no one is near me and I have to get up off the ground I still can but barely, I basically look like an infant trying to stand for the first time (get on one knee, spreading both legs way out and wobbling up to a stance). when I do walk my ankle support is very weak and the slightest change in the angle of the ground can cause my ankle to twist to the side and I fall. When I walk my leg lift and foot comes only slightly off the ground so walking over a garden hose laying on the ground can be a terrible obstacle if I am not careful and it can cause a trip and fall. I do not write this to scare those that have KD I do it to try to provide a timeline of the progression and what one may expect. Please keep in mind that different people progress differently.